A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009441



Internal ID18751972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16689670..16912960hg38UCSC Ensembl
Innerchr1:17016165..17239455hg19UCSC Ensembl
Innerchr1:16888752..17112042hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38223291
hg19223291
hg18223291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3467603
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009441
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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